ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.-136C>G (rs33994806)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000029948 SCV000040699 pathogenic beta Thalassemia 2015-05-14 no assertion criteria provided literature only
Integrated Genetics/Laboratory Corporation of America RCV000029948 SCV000052603 pathogenic beta Thalassemia 2015-04-03 no assertion criteria provided clinical testing
OMIM RCV000016723 SCV000036993 pathogenic Beta-plus-thalassemia 1992-06-01 no assertion criteria provided literature only
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000505925 SCV000601243 pathogenic not provided 2017-04-20 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.